CD7+ near-tetraploid acute myeloblastic leukemia M2 with double t(8;21)(q22;q22) translocations and Aml1/ETO rearrangements detected by fluorescence in situ hybridization analysis

Int J Hematol. 2001 Oct;74(3):316-21. doi: 10.1007/BF02982067.

Abstract

Near-tetraploidy is a rare cytogenetic abnormality observed in acute myeloblastic leukemia (AML). It was recently suggested that near-tetraploid AML may be associated specifically with t(8;21)(q22;q22). We report here a new case of near-tetraploid AML with double t(8;21)(q22;q22) translocations. A 61-year-old woman was admitted to our hospital because of high fever and pancytopenia. Her bone marrow was markedly hypercellular, with 72% giant and bizarre myeloblasts. These myeloblasts were positive for CD7, CD13, CD19, CD33, CD34, and HLA-DR but negative for CD2 and CD56. The patient's disease was diagnosed as the M2 subtype of AML (by French-American-British classification). Chromosome analysis revealed a karyotype of 45,X,-X, t(8;21) (q22;q22)[1]/90,XXX,-X,t(8;21)(q22;q22)x2,-9[7]/46,XX[12]. Fluorescence in situ hybridization (FISH) analysis with an AML1/ ETO probe detected 4 fusion signals on 2 der(8)t(8;21) and 2 der(21)t(8;21) in near-tetraploid cells. Reverse transcription-polymerase chain reaction analysis revealed the presence of the AML1/ETO fusion transcript. These findings suggested that near-tetraploidy may be a secondary genetic change originating from a diploid clone with t(8;21) and that 2 AML1/ETO fusion genes are generated on the der(8)t(8;21) in near-tetraploid clones. Consideration of the other reported cases suggests that the immunophenotypes of near-tetraploid AML with double t(8;21) are heterogenous, but it is possible that t(8;21)-AML with expression of CD2 or CD7 may be associated with a secondary clonal evolution to near-tetraploidy.

Publication types

  • Case Reports

MeSH terms

  • Antigens, CD7 / metabolism*
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 8
  • Clone Cells / immunology
  • Clone Cells / metabolism
  • Clone Cells / pathology
  • Core Binding Factor Alpha 2 Subunit
  • Female
  • Gene Rearrangement
  • Humans
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / immunology
  • Leukemia, Myeloid, Acute / pathology*
  • Oncogene Proteins, Fusion / genetics*
  • Polyploidy*
  • RNA, Messenger / analysis
  • RUNX1 Translocation Partner 1 Protein
  • Transcription Factors / genetics*
  • Translocation, Genetic / genetics*

Substances

  • AML1-ETO fusion protein, human
  • Antigens, CD7
  • Core Binding Factor Alpha 2 Subunit
  • Oncogene Proteins, Fusion
  • RNA, Messenger
  • RUNX1 Translocation Partner 1 Protein
  • Transcription Factors